Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy

Peter B. Kang, Hart G.W. Lidov, Alexander J. White, Matthew Mitchell, Anuradha Balasubramanian, Elicia Estrella, Richard R. Bennett, Basil T. Darras, Frederic D. Shapiro, Barbara J. Bambach, Joanne Kurtzberg, Emanuela Gussoni, Louis M. Kunkel

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD). Examinations of his DNA, muscle tissue, and myoblast cultures derived from muscle tissue were performed to determine whether any donor dystrophin was being expressed. The boy was found to have a large-scale deletion on the X chromosome that spanned the loci for CYBB and DMD. The absence of dystrophin led to muscle histology characteristic of DMD. Analysis of myofibers demonstrated no definite donor cell engraftment. This case suggests that umbilical cord-derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle.

Original languageEnglish (US)
Pages (from-to)746-750
Number of pages5
JournalMuscle and Nerve
Issue number6
StatePublished - Jun 2010
Externally publishedYes


  • Chronic granulomatous disease
  • Duchenne muscular dystrophy
  • Dystrophin
  • Stem cell therapy
  • Umbilical cord blood transplantation


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